Aliases for GON7 Gene

Aliases for GON7 Gene

  • GON7 Subunit Of KEOPS Complex 2 3 5
  • GON7, KEOPS Complex Subunit Homolog 2 3
  • EKC/KEOPS Complex Subunit GON7 3 4
  • Chromosome 14 Open Reading Frame 142 2
  • Uncharacterized Protein C14orf142 3
  • GON7, KEOPS Complex Subunit 2
  • C14orf142 3
  • PNAS-127 3
  • GON7 5

External Ids for GON7 Gene

Previous HGNC Symbols for GON7 Gene

  • C14orf142

Previous GeneCards Identifiers for GON7 Gene

  • GC14M093203
  • GC14M093204
  • GC14M093305
  • GC14M093547

Summaries for GON7 Gene

GeneCards Summary for GON7 Gene

GON7 (GON7 Subunit Of KEOPS Complex) is a Protein Coding gene. Diseases associated with GON7 include Galloway-Mowat Syndrome 2 and Galloway-Mowat Syndrome 1.

UniProtKB/Swiss-Prot Summary for GON7 Gene

  • Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. GON7 likely plays a supporting role to the catalytic subunit OSGEP in the complex.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GON7 Gene

Genomics for GON7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GON7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J093205 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 607.8 +0.3 264 4.8 SP1 CREB1 CTCF HNRNPL PRDM10 ZNF629 REST RFX1 IKZF1 ZNF692 GON7 UBR7 TMEM251 MOAP1 RF00017-1662 ENSG00000259066
GH14J092323 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 6.3 +883.8 883764 1 PRDM10 LARP7 ZIC2 PATZ1 EZH2 ZNF600 ZNF341 RAD21 ZBTB26 FOXM1 SLC24A4 GON7 RF01045-044 RIN3
GH14J093200 Enhancer 0.5 Ensembl 6.1 +6.4 6364 0.2 TEAD4 CEBPA CEBPB PKNOX1 TEAD1 TEAD3 HLF CEBPG GON7 RF00017-1662 UBR7 ENSG00000259066
GH14J092723 Enhancer 1.3 FANTOM5 Ensembl ENCODE 1.8 +479.1 479061 9.2 CREB1 GATAD2A ZNF629 JUND RXRB TCF12 IKZF2 SP1 TRIM22 HDAC1 TMEM251 BTBD7 TRIP11 SLC24A4 RIN3 MOAP1 GON7 LGMN lnc-ITPK1-2 lnc-ITPK1-3
GH14J092844 Enhancer 1.3 FANTOM5 Ensembl ENCODE 1.7 +359.8 359764 7.8 SP1 PRDM10 JUND PHF21A ZIC2 POLR2A IKZF2 HDAC1 SOX6 EP300 TMEM251 BTBD7 ATXN3 TRIP11 CHGA UNC79 GOLGA5 RIN3 CPSF2 MOAP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GON7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GON7

Genomic Locations for GON7 Gene

Genomic Locations for GON7 Gene
chr14:93,202,894-93,207,065
(GRCh38/hg38)
Size:
4,172 bases
Orientation:
Minus strand
chr14:93,669,237-93,673,459
(GRCh37/hg19)
Size:
4,223 bases
Orientation:
Minus strand

Genomic View for GON7 Gene

Genes around GON7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GON7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GON7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GON7 Gene

Proteins for GON7 Gene

  • Protein details for GON7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXV9-GON7_HUMAN
    Recommended name:
    EKC/KEOPS complex subunit GON7
    Protein Accession:
    Q9BXV9
    Secondary Accessions:
    • Q0D2N1
    • Q0P6C4
    • Q3B7W5

    Protein attributes for GON7 Gene

    Size:
    100 amino acids
    Molecular mass:
    10859 Da
    Quaternary structure:
    • Component of the EKC/KEOPS complex composed of at least GON7, TP53RK, TPRKB, OSGEP and LAGE3; the whole complex dimerizes.
    SequenceCaution:
    • Sequence=AAK07544.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GON7 Gene

neXtProt entry for GON7 Gene

Post-translational modifications for GON7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GON7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GON7 Gene

Domains & Families for GON7 Gene

Gene Families for GON7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GON7 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with GON7: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GON7 Gene

Function for GON7 Gene

Molecular function for GON7 Gene

UniProtKB/Swiss-Prot Function:
Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. GON7 likely plays a supporting role to the catalytic subunit OSGEP in the complex.

Phenotypes From GWAS Catalog for GON7 Gene

Gene Ontology (GO) - Molecular Function for GON7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 27903914
genes like me logo Genes that share ontologies with GON7: view
genes like me logo Genes that share phenotypes with GON7: view

Animal Model Products

CRISPR Products

miRNA for GON7 Gene

miRTarBase miRNAs that target GON7

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GON7

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GON7 Gene

Localization for GON7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GON7 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GON7 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GON7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000408 EKC/KEOPS complex IEA,IDA 27903914
GO:0005634 nucleus IEA,IDA 27903914
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with GON7: view

Pathways & Interactions for GON7 Gene

PathCards logo

SuperPathways for GON7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GON7 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for GON7 Gene

Drugs & Compounds for GON7 Gene

No Compound Related Data Available

Transcripts for GON7 Gene

mRNA/cDNA for GON7 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GON7

Alternative Splicing Database (ASD) splice patterns (SP) for GON7 Gene

No ASD Table

Relevant External Links for GON7 Gene

GeneLoc Exon Structure for
GON7

Expression for GON7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GON7

Evidence on tissue expression from TISSUES for GON7 Gene

  • Nervous system(4.3)
  • Liver(4.1)
  • Blood(4.1)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GON7 Gene

Orthologs for GON7 Gene

This gene was present in the common ancestor of mammals.

Orthologs for GON7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C14H14orf142 30
  • 100 (n)
C14orf142 31
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C8H14orf142 30
  • 85.67 (n)
C14orf142 31
  • 77 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C21H14orf142 30 31
  • 84.67 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia AK010878 30 31
  • 77.89 (n)
OneToMany
Gm20604 31
  • 55 (a)
OneToMany
RP24-234J3.4 31
  • 52 (a)
OneToMany
Gon7 17
Rat
(Rattus norvegicus)
Mammalia LOC100233176 30
  • 71.82 (n)
Oppossum
(Monodelphis domestica)
Mammalia C14orf142 31
  • 38 (a)
OneToOne
Species where no ortholog for GON7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for GON7 Gene

ENSEMBL:
Gene Tree for GON7 (if available)
TreeFam:
Gene Tree for GON7 (if available)

Paralogs for GON7 Gene

No data available for Paralogs for GON7 Gene

Variants for GON7 Gene

Additional dbSNP identifiers (rs#s) for GON7 Gene

Structural Variations from Database of Genomic Variants (DGV) for GON7 Gene

Variant ID Type Subtype PubMed ID
esv3635357 CNV gain 21293372

Variation tolerance for GON7 Gene

Residual Variation Intolerance Score: 77.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.36; 8.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GON7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GON7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GON7 Gene

Disorders for GON7 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GON7 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
galloway-mowat syndrome 2
galloway-mowat syndrome 1
  • gamos1
galloway-mowat syndrome
  • microcephaly, hiatal hernia, and nephrotic syndrome
- elite association - COSMIC cancer census association via MalaCards
Search GON7 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with GON7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GON7 Gene

Publications for GON7 Gene

  1. Proteomic analysis of the human KEOPS complex identifies C14ORF142 as a core subunit homologous to yeast Gon7. (PMID: 27903914) Wan LC … Sicheri F (Nucleic acids research 2017) 2 3 4
  2. The human EKC/KEOPS complex is recruited to Cullin2 ubiquitin ligases by the human tumour antigen PRAME. (PMID: 22912744) Costessi A … Stunnenberg HG (PloS one 2012) 2 3
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome. (PMID: 31481669) Arrondel C … Mollet G (Nature communications 2019) 3

Products for GON7 Gene

Sources for GON7 Gene